ClinVar Miner

List of variants in gene combination CEP85L, PLN reported as likely benign by GeneDx

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002667.5(PLN):c.-97-293T>C rs73526173 0.01125
NM_002667.5(PLN):c.-97-53T>A rs114121060 0.00854
NM_002667.5(PLN):c.-97-105A>G rs140164799 0.00403
NM_002667.5(PLN):c.-98+17G>A rs982384907 0.00006
NM_002667.5(PLN):c.144C>T (p.Ile48=) rs141114252 0.00005
NM_002667.5(PLN):c.*17C>G rs970310064 0.00001
NM_002667.5(PLN):c.-40C>T rs774271388 0.00001
NM_002667.5(PLN):c.-14G>A rs1057522073
NM_002667.5(PLN):c.-97-165_-97-160del rs1314630868
NM_002667.5(PLN):c.-97-199_-97-198del rs1349011771
NM_002667.5(PLN):c.-98+15T>A rs1583023412
NM_002667.5(PLN):c.27C>A (p.Arg9=) rs145623013

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